A year living with Complex 1 Deficiency (part 2)

If you missed Part 1, you can read it here.

… So here we were. Rosie was in hospital recovering from another cold. Her lungs were collapsing left, right and centre – literally – and Iain and I were dealing with the news that Rosie was going die from a nasty condition called complex 1 deficiency, commonly known as Leigh’s disease.

dsc_1013 We’d broken the news to friends and family and everyone had been truly amazing, kind and supportive. Over the weeks that Rosie was in hospital people came to visit – some to say their goodbyes, others to pray and some to just be.

As with every hospital admission with Rosie, Iain’s mum and dad without fail have come in every single lunchtime to sit with Rosie to let Iain and I take a break. The days can be incredibly long and I know we would never have managed as we did without their help. They really are our backbone and we are truly grateful to have their love, time and amazing support.

Long days and living out of plastic bags really take their toll

Over the weeks Rosie started to recover but we didn’t know what the future would look like or how long she had left.

Rosie actually bleeds hearts!

It was early October 2015. We had met with the paediatric metabolic consultant who had offered support, answered questions and invited us to take a look at The Lily Foundation – a charity dedicated to fighting mitochondrial disease.

We’d also chatted to the consultant on PICU who had found only one medical report online documenting three cases worldwide of a child having both Nemaline Rod Myopthy AND complex 1 deficiency. I’d asked to read it.

It didn’t provide much in the way of answers or expectations as each child presented completely differently and it didn’t make for an easy or enjoyable read. Rosie was indeed a genetic rarity and on a few occasions we were asked if it was OK for her condition / backstory to be presented at various medical conferences around Europe – we were happy to oblige.

Fresh air for 10 minutes!

On October 11, 2015 and six long weeks in hospital, Rosie was finally discharged home complete with an entire drug store. Although only an array of vitamins and minerals, these were her new medicines to try and help boost her energy and counteract her complex 1 mitochondrial deficiency.

Rosies drug tray.jpg
Rosie’s morning cocktail of vitamins and minerals

Rosie’s regime changed from a special milk formula, water and a routine antibiotic to be given throughout the winter three times a week to also include a concoction of Thiamine, Biotin, Riboflavin and co-enzyme Q10 (which was a bugger for blocking Rosie’s gastrostomy feeding tube!). We felt we were on a slippery slope.

Christmas came and went (that didn’t quite go to plan, but that’s a story for another day!), the new year started with revised hopes and dreams and we spent much of the festive season formulating a plan for how we could give Rosie the best time of her life. We still didn’t know how long we had left with her, but we under the impression it wasn’t long.

With the start of the new year came the coughs and colds and Rosie ended up being ill on and off for the first 6 months of the year. We were far more equipped to deal with her at home, exhausting as it was, but we managed to keep on top of the cold and Rosie out of hospital. That was right until the end of June when an unfortunate Wizzybug accident pulled her gastrostomy half out and she ended up needing urgent surgery to sort it out (again, more on that another time!).

Hide and seek!

During the middle of 2016 the doubts started to appear over Rosie’s complex 1 deficiency. Rosie wasn’t showing any signs of deterioration and there were questions over how this metabolic deficiency would play out as a secondary condition to her nemaline myopathy.

There was thinking that by Rosie being physically weak, that maybe she didn’t need the energy levels of other ‘normal’ child as her body didn’t function in the same way anyway. Test results and repeat test requests went back and forth from various laboratories around the country.

We just got on with things as usual. I think Iain and I just pushed complex 1 to the back of our minds and thought we’d deal with it when we had to. With utter relief, that day never came.

A meeting on October 10, 2016 with Rosie’s neurologist confirmed that her complex 1 deficiency was absolutely nothing to worry about. THERE’S OUR MIRACLE RIGHT THERE!

Miracles happen!

It turned out that the laboratory had not been able to repeat the finds of the high disease causing levels found previously… unbelievable! So the upshot is that Rosie does have a complex 1 deficiency, but that it is not at a disease causing level.

So next week Iain and I will go and give our bloods for our DNA to be screened in order to determine where Rosie’s nemaline myopathy may have come from. It might be that both Iain and I carry the same defective gene (which given its rarity would be ridiculous) or it could be ‘one of those unexplained things’. We will find out the results in the new year.

For now, I’ll leave you with Rosie’s happy dance video and a word of thanks to EVERYONE who I know prayed, sent healing, thought about us, helped us, sent us cards and gifts during that majorly horrendous time a year ago! You helped this miracle happen. Thank you!

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